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Journal Articles

Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis

Mathilde Filser, Muriel Giansily-Blaizot, Mélanie Grenier, David Monedero Alonso, Guillaume Bouyer, Laurent Pérès, Stéphane Egée, Bernard Aral, Fabrice Airaud, Lydie Da Costa, Véronique Picard, Pierre Cougoul, Marlène Palach, Stéphane Béziau, Céline Garrec, Patricia Aguilar-Martinez, Betty Gardie, François Girodon

Blood (2021) 137 (13): 1828–1832.

https://doi.org/10.1182/blood.2020008424

Published: 2021

Includes: Supplemental data

Journal Articles

Biallelic Mutations in Hamp in Type 2b Hemochromatosis

Serge Pissard, MDPhD, Ka Chandran, Florence Houriez, Ichrache Benmaad, Martial Saunier, Thibault Lefebvre, Patricia Aguilar-Martinez, MD PhD, Patricia A. Bignell, Gerald Le Gac, MDPhD, Jacques Rochette, MB, DSc

Blood (2016) 128 (22): 1279.

https://doi.org/10.1182/blood.V128.22.1279.1279

Published: 2016

Journal Articles

Inherited and Acquired Modifiers of Iron Status May Dramatically Affect the Phenotypic Expression of Dehydrated Hereditary Stomatocytosis

Corentin Orvain, Lydie Da Costa, MD PhD, Richard van Wijk, PhD, Serge Pissard, MD PhD, Veronique Picard, MD PhD, Lamisse Mansour-Hendili, PharmD, Muriel Giansily-Blaizot, MD PhD, Guillaume Cartron, MD PhD, Jean-Francois Schved, MD PhD, Patricia Aguilar-Martinez, MD PhD

Blood (2016) 128 (22): 1281.

https://doi.org/10.1182/blood.V128.22.1281.1281

Published: 2016

Journal Articles

Hepcidin Upregulation By Inflammation Is Not Causally Related to Liver Activation of Smad1/5/8 Signaling By Activin B

Celine Besson-Fournier, Aurelie Gineste, Chloe Latour, Ophelie Gourbeyre, Delphine Meynard, PhD, Patricia Aguilar-Martinez, MD PhD, Eric Oswald, DVM, PhD, Patricia Martin, PhD, Helene Coppin, PhD, Marie-Paule Roth, MD

Blood (2016) 128 (22): 262.

https://doi.org/10.1182/blood.V128.22.262.262

Published: 2016

Journal Articles

Phenotypic Variability in Genetic Hemochromatosis: Study of Five SNPs in a Cohort of 342 Compound Heterozygotes for the HFE Cys282Tyr / His63Asp Mutations

Gaelle Tachon, Marie-Paule Roth, MD, Fabienne Calcoen, Celine Besson-Fournier, M.Sc, Michael Bismuth, MD, Patricia Aguilar-Martinez, MD PhD

Blood (2015) 126 (23): 3361.

https://doi.org/10.1182/blood.V126.23.3361.3361

Published: 2015

Journal Articles

Transferrin Receptor 2 and HFE Regulate Hepcidin Levels Independently of Bmp6 and Hemojuvelin

Céline Besson-Fournier, Chloé Latour, Ophélie Gourbeyre, Patricia Aguilar-Martinez, MD PhD, Laura Silvestri, PhD, Marie-Paule Roth, MD, Hélène Coppin, PhD

Blood (2014) 124 (21): 746.

https://doi.org/10.1182/blood.V124.21.746.746

Published: 2014

Journal Articles

Inactivating Hfe Totally Abolishes Hepcidin Production and Further Aggravates Iron Overload In Bmp6-Deficient Mice

Chloe Latour, Celine Besson-Fournier, Nelly Rouquie, Léon Kautz, PhD, Patricia Aguilar-Martinez, Marie-Paule Roth, MD, Helene Coppin

Blood (2013) 122 (21): 178.

https://doi.org/10.1182/blood.V122.21.178.178

Published: 2013

Journal Articles

Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1 : a novel form of GLUT1 deficiency syndrome

Joanna F. Flatt, Hélène Guizouarn, Nicholas M. Burton, Franck Borgese, Richard J. Tomlinson, Robert J. Forsyth, Stephen A. Baldwin, Bari E. Levinson, Philippe Quittet, Patricia Aguilar-Martinez, Jean Delaunay, Gordon W. Stewart, Lesley J. Bruce

Blood (2011) 118 (19): 5267–5277.

https://doi.org/10.1182/blood-2010-12-326645

Published: 2011

Includes: Supplemental data

Journal Articles

The Southern French Registry of Genetic Hemochromatosis, a Tool for Determination of Clinical Prevalence and Genotype Penetrance of the Disorder.

Patricia Aguilar-Martinez, MD, PhD, Michael Bismuth, MD, Francois Blanc, MD, Pierre Blanc, MD, PhD, Severine Cunat, PhD, Olivier Dereure, MD, PhD, Pierre Dujols, MD, Muriel Giansily-Blaizot, MD, PhD, Christian Jorgensen, MD, PhD, Amadou Konate, MD, Dominique Larrey, MD, Alain Le Quellec, MD, Thibault Mura, MD, Isabelle Raingeard, MD, Jeanne Ramos, MD, Eric Renard, MD, PhD, Florence Rousseau, MD, Jean-Francois Schved, MD, PhD, Marie Christine Picot, MD, PhD

Blood (2009) 114 (22): 4055.

https://doi.org/10.1182/blood.V114.22.4055.4055

Published: 2009

Journal Articles

Iron Overload in C282Y Heterozygotes: Identification of New Rare HFE Gene Mutants and a Step Strategy for Diagnosis.

Patricia Aguilar-Martinez, Severine Cunat, Fabienne Becker, Francois Blanc, Marlene Nourrit, Philippe Pouderoux, Jean-Francois Schved

Blood (2008) 112 (11): 1859.

https://doi.org/10.1182/blood.V112.11.1859.1859

Published: 2008

Journal Articles

Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5′-UTR of the HAMP gene

Thomas Matthes, Patricia Aguilar-Martinez, Loredana Pizzi-Bosman, Régis Darbellay, Laura Rubbia-Brandt, Emilio Giostra, Martine Michel, Tomas Ganz, Photis Beris

Blood (2004) 104 (7): 2181–2183.

https://doi.org/10.1182/blood-2004-01-0332

Published: 2004

NARROW

Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis

Biallelic Mutations in Hamp in Type 2b Hemochromatosis

Inherited and Acquired Modifiers of Iron Status May Dramatically Affect the Phenotypic Expression of Dehydrated Hereditary Stomatocytosis

Hepcidin Upregulation By Inflammation Is Not Causally Related to Liver Activation of Smad1/5/8 Signaling By Activin B

Phenotypic Variability in Genetic Hemochromatosis: Study of Five SNPs in a Cohort of 342 Compound Heterozygotes for the HFE Cys282Tyr / His63Asp Mutations

Transferrin Receptor 2 and HFE Regulate Hepcidin Levels Independently of Bmp6 and Hemojuvelin

Inactivating Hfe Totally Abolishes Hepcidin Production and Further Aggravates Iron Overload In Bmp6-Deficient Mice

Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1 : a novel form of GLUT1 deficiency syndrome

The Southern French Registry of Genetic Hemochromatosis, a Tool for Determination of Clinical Prevalence and Genotype Penetrance of the Disorder.

Iron Overload in C282Y Heterozygotes: Identification of New Rare HFE Gene Mutants and a Step Strategy for Diagnosis.

Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5′-UTR of the HAMP gene

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American Society of Hematology

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American Society of Hematology

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